Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families

We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport syndrome. The second patient was found to have a...

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Detalles Bibliográficos
Autores principales: Hines, Stephanie L., Agarwal, Anjali, Ghandour, Mohamedanwar, Aslam, Nabeel, Mohammad, Ahmed N., Atwal, Paldeep S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039481/
https://www.ncbi.nlm.nih.gov/pubmed/30002862
http://dx.doi.org/10.1038/s41439-018-0016-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039481/
https://www.ncbi.nlm.nih.gov/pubmed/30002862
http://dx.doi.org/10.1038/s41439-018-0016-8

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